Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(11): Show CCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(16): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG03942.hp2 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18948.hp2 NA18953.hp1 NA18980.hp1 NA18984.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19078.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 others(14): Show a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0289 a0001c0001t0003g0290 a0001c0001t0004g0008 a0001c0001t0004g0077 a0001c0001t0004g0085 a0001c0002t0001g0007 a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0009g0080 a0001c0003t0001g0084	19	146	0.1301	18	c.84+ others(33): Show c.84+1375_84+1392dupAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01123.hp1 others(20): Show HG00099.hp2 HG00642.hp2 HG01123.hp1 HG01433.hp2 HG01496.hp1 HG01952.hp1 HG02293.hp1 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp2 HG02976.hp2 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18980.hp2 NA19009.hp1 NA19065.hp2 NA19068.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0004c0005 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0004c0005t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0023 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0266 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0338 a0001c0004t0001g0298 a0001c0004t0001g0310 a0003c0003t0001g0163 a0003c0003t0001g0348 a0004c0005t0001g0014 a0004c0005t0001g0050 a0004c0006t0001g0002	23	206	0.1117	18	c.81+ others(33): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102342340	G G	GTGTATTT others(11): Show GTGTATTTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	252	0.0040	18	c.-62 others(29): Show c.-6294_-6293insTGTATTTATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	G G	GTATATGT others(11): Show GTATATGTATGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	62	0.0161	18	c.-62 others(29): Show c.-6290_-6289insTATATGTATGTATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	229	0.0044	18	c.112 others(35): Show c.1123+442_1123+459dupTATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	305	0.0033	18	c.112 others(35): Show c.1123+459_1123+460insTATATATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	233	0.0043	18	c.112 others(35): Show c.1123+459_1123+460insTATATATATATATACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG02615.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0247 a0001c0001t0001g0040 a0001c0001t0001g0247	2	234	0.0085	18	c.112 others(35): Show c.1123+459_1123+460insTATATATATATATATACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102365743	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02280.hp1 others(2): Show HG01109.hp2 HG01884.hp1 HG02280.hp1 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0254 a0001c0001t0002g0257 others(1): Show a0001c0001t0002g0039 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0258	5	265	0.0189	18	c.112 others(37): Show c.1123+2038_1123+2055dupGTGTGTGTGTGTGTGTGT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	G G	GTGTATTT others(11): Show GTGTATTTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	1	278	0.0036	18	c.52 others(29): Show c.5238_*5239insTGTATTTATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	68	0.0147	18	c.52 others(29): Show c.5242_*5243insTATATATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	G G	GTATATGT others(11): Show GTATATGTATGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0006	1	68	0.0147	18	c.52 others(29): Show c.5242_*5243insTATATGTATGTATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32397628	A A	ACACACAC others(11): Show ACACACACACACATATATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	270	0.0037	18	c.103 others(37): Show c.1034+2035_1034+2036insCACACACACACATATATG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73			chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG03579.hp1 others(1): Show HG02257.hp2 HG02922.hp1 HG03579.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0019 a0004c0047 a0001c0006 a0004c0019 a0004c0047	a0001c0006t0001 a0004c0019t0001 a0004c0047t0001 a0001c0006t0001 a0004c0019t0001 a0004c0047t0001	a0001c0006t0001g0005 a0004c0019t0001g0143 a0004c0019t0001g0145 others(1): Show a0001c0006t0001g0005 a0004c0019t0001g0143 a0004c0019t0001g0145 a0004c0047t0001g0144	4	237	0.0169	18	c.381 others(35): Show c.3811-566_3811-549dupATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460245	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0028 a0001c0009t0001g0028	1	242	0.0041	18	c.475 others(37): Show c.4754-2938_4754-2921dupATATATATATATATATAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0106 a0001c0015t0001g0106	1	74	0.0135	18	c.475 others(37): Show c.4754-2921_4754-2920insATATATATATATATATTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02293.hp1 HG02647.hp1 others(6): Show HG01175.hp1 HG02293.hp1 HG02647.hp1 HG03490.hp2 HG03688.hp1 HG06807.hp2 NA18966.hp2 NA19084.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0007t0003 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0003 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0244 others(6): Show a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0003t0001g0133 a0001c0003t0001g0265 a0001c0007t0003g0185 a0001c0011t0001g0216 a0002c0002t0001g0092	9	29	0.3103	18	c.122 others(37): Show c.12291+603_12291+620dupTGTGTGTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0241 a0001c0023t0001g0241	1	14	0.0714	18	c.131 others(39): Show c.13144+3736_13144+3753dupAAAAAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp2 HG04199.hp2 others(1): Show HG02622.hp2 HG03209.hp2 HG04199.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0031 a0001c0001 a0001c0018 a0001c0031	a0001c0001t0001 a0001c0018t0003 a0001c0031t0003 a0001c0001t0001 a0001c0018t0003 a0001c0031t0003	a0001c0001t0001g0199 a0001c0018t0003g0183 a0001c0018t0003g0184 others(1): Show a0001c0001t0001g0199 a0001c0018t0003g0183 a0001c0018t0003g0184 a0001c0031t0003g0182	4	107	0.0374	18	c.133 others(39): Show c.13355+3624_13355+3625insTATATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578989	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01261.hp2 others(5): Show HG01167.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02293.hp2	a0001 a0005 a0001 a0005	a0001c0006 a0005c0020 a0001c0006 a0005c0020	a0001c0006t0001 a0005c0020t0001 a0001c0006t0001 a0005c0020t0001	a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 others(5): Show a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0013 a0005c0020t0001g0001 a0005c0020t0001g0012	8	266	0.0301	18	c.133 others(39): Show c.13355+3624_13355+3625insTATATATATATATATACA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 NA18952.hp1 others(3): Show HG00408.hp1 HG00735.hp2 NA18952.hp1 NA18970.hp1 NA18978.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 a0001c0001t0002 a0001c0001t0003 a0001c0001t0033	a0001c0001t0002g0013 a0001c0001t0002g0090 a0001c0001t0003g0259 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0090 a0001c0001t0003g0259 a0001c0001t0033g0072	6	59	0.1017	18	c.103 others(37): Show c.1035-1138_1035-1121dupTTTTTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11492900	C C	CTAAGCAC others(11): Show CTAAGCACAGAGCAGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0017 a0001c0012t0017	a0001c0012t0017g0295 a0001c0012t0017g0295	1	306	0.0033	18	c.-16 others(29): Show c.-1693_-1692insTAAGCACAGAGCAGGTGT	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding		1486		chr8	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GGAAGGAA others(11): Show GGAAGGAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0288 a0001c0003t0004g0288	1	107	0.0093	18	c.-2+ others(33): Show c.-2+9776_-2+9777insGAAGGAAGAAAGAAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12			chr8	TogoVar
BLK_chr8_11489387_11569599	11531352	T T	TTCTATTC others(11): Show TTCTATTCTAAGGGAATAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	3	306	0.0098	18	c.-1- others(35): Show c.-1-11854_-1-11837dupATCTATTCTAAGGGAATA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLM_chr15_90712346_90821166	90735236	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02559.hp2 NA18940.hp2 others(1): Show HG00323.hp1 HG02559.hp2 NA18940.hp2 NA18975.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0004c0006t0002 a0001c0001t0001 a0001c0001t0005 a0004c0006t0002	a0001c0001t0001g0082 a0001c0001t0005g0051 a0004c0006t0002g0031 others(1): Show a0001c0001t0001g0082 a0001c0001t0005g0051 a0004c0006t0002g0031 a0004c0006t0002g0035	4	41	0.0976	18	c.-4- others(35): Show c.-4-12134_-4-12117dupATATATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90789987	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18944.hp2 NA19064.hp1 NA18940.hp2 NA18944.hp2 NA19064.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0035 a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0035	3	50	0.0600	18	c.282 others(35): Show c.2824-643_2824-626dupTTTTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96194768	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0057 a0001c0001t0027g0057	1	54	0.0185	18	c.125 others(37): Show c.1251+2122_1251+2139dupAAAAAAAAAAAAAAAAAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	16/16			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276359	C C	CCCTCTCC others(11): Show CCCTCTCCCGTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	376	0.0027	18	c.398 others(33): Show c.398-867_398-866insAGAGGGAGACGGGAGAGG	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281705	T T	TATATACA others(11): Show TATATACACATACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0208 a0002c0002t0007g0208	1	372	0.0027	18	c.173 others(33): Show c.173-653_173-652insGTGTGTGTATGTGTATAT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281711	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 NA18978.hp1 HG02280.hp2 NA18906.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0221 a0002c0002t0003g0045 a0002c0002t0003g0221	3	186	0.0161	18	c.173 others(33): Show c.173-676_173-659dupGTGTGTGTGTGTGTGTGT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45180235	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	2	258	0.0078	18	c.33 others(27): Show c.337_*354dupTTTTTTTTTTTTTTTTTT	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2	355	INFO_REALIGN_3_PRIME	chr19	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03540.hp1 HG01175.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0236 a0001c0001t0003g0143 a0001c0001t0003g0236	2	29	0.0690	18	c.196 others(35): Show c.196-5893_196-5892insTGTGTGTGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04199.hp2 NA18960.hp1 others(1): Show HG03490.hp1 HG04199.hp2 NA18960.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0219 a0001c0001t0003g0232 others(1): Show a0001c0001t0003g0205 a0001c0001t0003g0219 a0001c0001t0003g0232 a0001c0001t0003g0234	4	31	0.1290	18	c.196 others(35): Show c.196-5893_196-5892insTGTGTGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	28	0.0357	18	c.196 others(35): Show c.196-5893_196-5892insTGTGAGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122262148	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	22	0.0455	18	c.676 others(35): Show c.6763-594_6763-577dupGTGTGTGTGTGTGTGTGT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	42/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG03041.hp1 others(3): Show HG02809.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 NA19043.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0014 a0007c0012 a0001c0001 a0006c0014 a0007c0012	a0001c0001t0001 a0006c0014t0001 a0007c0012t0001 a0001c0001t0001 a0006c0014t0001 a0007c0012t0001	a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0006c0014t0001g0118 a0007c0012t0001g0315	6	77	0.0779	18	c.749 others(35): Show c.7493+101_7493+118dupTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp2 HG01993.hp2 others(7): Show HG00673.hp2 HG01081.hp2 HG01993.hp2 HG02155.hp2 HG02300.hp2 HG02630.hp1 HG03579.hp2 HG03942.hp1 NA18993.hp2 NA19077.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0031 a0001c0001 a0002c0004 a0005c0031	a0001c0001t0001 a0002c0004t0001 a0005c0031t0001 a0001c0001t0001 a0002c0004t0001 a0005c0031t0001	a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0181 others(7): Show a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0001g0214 a0001c0001t0001g0251 a0001c0001t0001g0253 a0002c0004t0001g0128 a0002c0004t0001g0131 a0002c0004t0001g0158 a0005c0031t0001g0197	10	20	0.5000	18	c.109 others(39): Show c.10996-2429_10996-2412dupTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGCG others(11): Show TGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00673.hp1 others(46): Show HG00558.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG01192.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG02083.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp1 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18948.hp1 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18983.hp1 NA19000.hp2 NA19009.hp2 NA19063.hp2 NA19083.hp1 NA19087.hp1 NA19089.hp1 NA20805.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0006 a0007 a0011 a0017 a0018	a0002c0002 a0003c0003 a0003c0022 others(9): Show a0002c0002 a0003c0003 a0003c0022 a0003c0027 a0004c0004 a0004c0014 a0004c0015 a0006c0007 a0007c0008 a0011c0013 a0017c0033 a0018c0029	a0002c0002t0037 a0003c0003t0003 a0003c0003t0011 others(12): Show a0002c0002t0037 a0003c0003t0003 a0003c0003t0011 a0003c0003t0012 a0003c0003t0035 a0003c0022t0003 a0003c0027t0012 a0004c0004t0011 a0004c0014t0011 a0004c0015t0011 a0006c0007t0036 a0007c0008t0013 a0011c0013t0003 a0017c0033t0003 a0018c0029t0003	a0002c0002t0037g0096 a0003c0003t0003g0004 a0003c0003t0003g0005 others(44): Show a0002c0002t0037g0096 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0106 a0003c0003t0003g0107 a0003c0003t0003g0108 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0118 a0003c0003t0003g0121 a0003c0003t0003g0122 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0148 a0003c0003t0003g0149 a0003c0003t0003g0161 a0003c0003t0011g0133 a0003c0003t0012g0112 a0003c0003t0012g0114 a0003c0003t0012g0136 a0003c0003t0012g0139 a0003c0003t0035g0126 a0003c0022t0003g0163 a0003c0027t0012g0101 a0004c0004t0011g0025 a0004c0014t0011g0043 a0004c0014t0011g0044 a0004c0015t0011g0159 a0006c0007t0036g0302 a0007c0008t0013g0150 a0007c0008t0013g0151 a0007c0008t0013g0152 a0007c0008t0013g0153 a0007c0008t0013g0154 a0011c0013t0003g0100 a0011c0013t0003g0141 a0017c0033t0003g0142 a0018c0029t0003g0162	49	190	0.2579	18	c.-11 others(27): Show c.-110_-109insGGCGGCGGCGGCGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	102	0.0098	18	c.44+ others(33): Show c.44+1862_44+1863insATATATATATTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40448608	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	49	0.0204	18	c.464 others(33): Show c.464-580_464-563dupATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40448608	A A	ATAACAAC others(11): Show ATAACAACAACAAATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	49	0.0204	18	c.464 others(33): Show c.464-563_464-562insATATATTTGTTGTTGTTA	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	320	0.0031	18	c.80- others(33): Show c.80-1701_80-1700insATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLZF1_chr1_169363195_169393305	169375393	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01167.hp2 others(4): Show HG00140.hp2 HG01069.hp1 HG01167.hp2 HG01192.hp2 HG02622.hp1 HG03688.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0063 a0001c0001t0002g0064 others(2): Show a0001c0001t0002g0020 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0084	7	50	0.1400	18	c.29- others(33): Show c.29-1126_29-1109dupATATATATATATATATAT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMAL1_chr11_13272790_13392266	13314229	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02258.hp2 HG02818.hp1 others(3): Show HG00408.hp1 HG02258.hp2 HG02818.hp1 HG03209.hp1 NA18973.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0215 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0215 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0005g0101	6	86	0.0698	18	c.-19 others(37): Show c.-190+4196_-190+4213dupACACACACACACACACAC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13325657	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp2 HG02970.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0306 a0001c0001t0001g0014 a0001c0001t0001g0306	2	17	0.1176	18	c.-18 others(35): Show c.-189-735_-189-718dupTGTGTGTGTGTGTGTGTG	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13325657	T T	TTGTGTTT others(11): Show TTGTGTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02717.hp1 HG02896.hp1 HG02897.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0305	4	19	0.2105	18	c.-18 others(35): Show c.-189-751_-189-750insTTGTGTGTGTGTGTGTGT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13339430	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0009 a0001c0001t0001g0013	2	132	0.0152	18	c.-13 others(39): Show c.-134-10505_-134-10488dupCACACACACACACACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13365282	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	59	0.0169	18	c.460 others(33): Show c.460-196_460-179dupCACACACACACACACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01358.hp1 others(9): Show HG00323.hp2 HG01069.hp2 HG01358.hp1 HG01358.hp2 HG01928.hp2 HG01934.hp2 HG03669.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18971.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0032	a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0181 others(9): Show a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0007g0187 a0001c0001t0012g0180 a0001c0001t0012g0183 a0001c0001t0032g0182	12	28	0.4286	18	c.32- others(33): Show c.32-7454_32-7437dupAAAAAAAAAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03209.hp2 HG03491.hp1 others(3): Show HG02486.hp2 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0002c0002t0005 a0001c0001t0003 a0001c0001t0005 a0002c0002t0005	a0001c0001t0003g0047 a0001c0001t0005g0096 a0002c0002t0005g0006 others(2): Show a0001c0001t0003g0047 a0001c0001t0005g0096 a0002c0002t0005g0006 a0002c0002t0005g0124 a0002c0002t0005g0220	6	14	0.4286	18	c.177 others(35): Show c.1775-376_1775-375insGCGCGCGCACACACACAC	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar

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